Phenotypes associated with the disease Familial spontaneous pneumothorax (ORPHA:2903):
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2903)
- Abnormal pleura morphology (HP:0002103): An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2903)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2903)